E-LIB Suche - Ergebnisse für: Roubertie, Agathe

1

Dyskinetic crisis in GNAO1-related disorders: clinical pers..:

Domínguez Carral, Jana ; Reinhard, Carola ; Ebrahimi-Fakhari, Darius...
Frontiers in Neurology. 15 (2024) - p. , 2024

2

Efficacy of intravenous clonazepam for paediatric convulsiv..:

Colmard, Maxime ; Rivier, François ; de Barry, Gaëlle...
Developmental Medicine & Child Neurology. 66 (2024) 8 - p. 1053-1061 , 2024

Link: https://doi.org/10.1111/..

3

Patient selection considerations for AADC deficiency gene t..:

Roubertie, Agathe ; Anselm, Irina ; Ben‐Zeev, Bruria...
Annals of the Child Neurology Society. 2 (2024) 1 - p. 53-59 , 2024

Link: https://doi.org/10.1002/..

4

Effect of Oxygen Administration on Paroxysmal Motor Events ..:

Papadopoulou, Maria T. ; Welniarz, Quentin ; Roubertie, Agathe...
Movement Disorders. 38 (2023) 9 - p. 1759-1761 , 2023

Link: https://doi.org/10.1002/..

5

Prospective Multicenter Validation of a Simple Blood Test f..:

Mochel, Fanny ; Gras, Domitille ; Luton, Marie-Pierre...
Neurology. 100 (2023) 23 - p. , 2023

Link: https://doi.org/10.1212/..

6

Gene therapy for aromatic L‐amino acid decarboxylase defici..:

Roubertie, Agathe ; Opladen, Thomas ; Brennenstuhl, Heiko...
Journal of Inherited Metabolic Disease. 47 (2023) 3 - p. 463-475 , 2023

Link: https://doi.org/10.1002/..

7

Clinical and Electrophysiological Characterization of Essen..:

Piarroux, Julie ; Dimopoulou, Evgenia ; Taieb, Guillaume...
Tremor and Other Hyperkinetic Movements. 13 (2023) - p. 46 , 2023

Link: https://doi.org/10.5334/..

8

Natural history of GM1 gangliosidosis—Retrospective cohort ..:

Laur, Domitille ; Pichard, Samia ; Bekri, Soumeya...
Journal of Inherited Metabolic Disease. 46 (2023) 5 - p. 972-981 , 2023

Link: https://doi.org/10.1002/..

9

Non‐Motor Symptoms and Quality of Life in Patients withPRRT..:

Ekmen, Asya ; Doulazmi, Mohamed ; Méneret, Aurélie...
Movement Disorders Clinical Practice. 10 (2023) 7 - p. 1082-1089 , 2023

Link: https://doi.org/10.1002/..

10

Long‐term follow‐up of 64 children with classical infantile..:

Tardieu, Marine ; Cudejko, Céline ; Cano, Aline...
European Journal of Neurology. 30 (2023) 9 - p. 2828-2837 , 2023

Link: https://doi.org/10.1111/..

11

Postnatal outcome of children with antenatal colonic hypere..:

Fuchs, Florent ; Rodriguez, Alexis ; Mousty, Eve...
Prenatal Diagnosis. 44 (2023) 1 - p. 28-34 , 2023

Link: https://doi.org/10.1002/..

12

Eladocagene Exuparvovec Gene Therapy Improves Motor Develop..:

Russell, Alexis ; Roubertie, Agathe ; Chien, Yin-Hsiu...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023

Link: https://doi.org/10.1212/..

13

Intraputaminal Gene Delivery in Two Patients with Aromatic ..:

François‐Heude, Marie‐Céline ; Poulen, Gaetan ; Flamand Roze, Emmanuel...
Movement Disorders Clinical Practice. 10 (2023) 5 - p. 811-818 , 2023

Link: https://doi.org/10.1002/..

14

Association between acute complications in PMM2-CDG patient..:

Wicker, Camille ; Roux, Charles-Joris ; Goujon, Louise...
Molecular Genetics and Metabolism. 140 (2023) 3 - p. 107674 , 2023

Link: https://doi.org/10.1016/..

15

Oxygen Therapy: An Acute Treatment for Paroxysmal Dystonia ..:

Welniarz, Quentin ; Gras, Domitille ; Roubertie, Agathe...
Movement Disorders. 38 (2023) 5 - p. 906-907 , 2023

Link: https://doi.org/10.1002/..